Newborn Screening in Maryland

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Newborn Screening in Maryland

• The Maryland Program
• Informed Consent
• Informational Materials
• Linkage to Services
• Challenges of Working with Commercial Labs

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The goal of newborn screening is to eliminate,
through early identification and treatment,
screenable disorders as a cause of morbidity
and mortality and to improve the quality of life
for affected individuals.
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Newborn screening is not just a laboratory
service it is a system of care including, not
only testing, but also follow up, definitive
diagnosis, treatment, long term management,
education and evaluation----
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The goal of newborn screening follow up is to
ensure that each affected infant receives the
full benefit of early detection and optimal long
term treatment and management.
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Follow Up

• short term follow up- assure that a definitive
  diagnostic work-up is done, that the infant
  really has the disorder and that the infant is
  started on appropriate treatment
• long term follow up- assure that the infant
  continues to receive appropriate treatment and
  monitors the long term outcome

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Long-term tracking of affected children provides
the data for outcome evaluation and the clinical
utility of screening.
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Why is Follow up Important?

• assures the benefit to the infant/ family
• collects data needed for program evaluation
• holds all program components together

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Components of a Follow Up System

• trained personnel
• database
• administrative, secretarial and computer support
• medical direction
• protocols
• cooperative birthing facilities
• informed families
• PCP medical home
• specialty consultants and providers
• screening and diagnostic laboratories
• effective communication

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The Role of the State in Newborn Screening

• Assure that all infants are offered screening,
  without regard to ability to pay
• Assure that all infants with results that are not
  normal are followed up
• Assure that all affected infants receive
  appropriate treatment in the necessary time
  frame, without regard to ability to pay
• Assure that all affected infants receive
• appropriate long term care

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History of Newborn Screening in Maryland

• Both health professionals and families advocate
  screening
• 1963 lab begins to perfect Guthrie technique
• 1965 mandatory PKU screening begins
• 1973 statute for Commission on Hereditary
  Disorders
• Commission decides all genetic testing (including
  newborn screening) will be voluntary and require
  informed consent
• 1973 MSUD, homocystinuria and tyrosinemia added
• 1975 new regulations require informed consent
• 1978 hypothyriodism added

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History of Newborn Screening in Maryland

• 1981 galactosemia added, method changed 1987
• 1984 biotinidase deficiency added
• 1985 sickle cell disease added
• 2000 hearing screening added
• 2001 CAH added
• 2003 MS.MS added
• 2003 commercial lab licensed
• 2005 cystic fibrosis to be added

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Unusual Features of the Maryland Newborn
Screening Program

• Short term follow up unit established at the
  outset
• Long term follow up unit, including nutritional
  management, established at the outset
• Nutritional management provided, free of charge,
  through the health department from the outset
• Patients linked to services NBS is part of
  Genetics/CSHCN unit
• One of the earliest advisory commissions-
  consumer dominated , includes medical experts and
  legislators
• Voluntary screening with informed consent since
  1975
• Routine second specimen
• Metabolic Centers receive State subsidies since
  1981
• Hematology/ endocrine follow up also subsidized

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Adding Disorders to the Maryland PanelClassical
criteria for selecting disorders to screen for

• Relatively high incidence
• Treatment available
• Good screening test
• Low cost /cost effective
• 
  
  (Genetic Screening Procedural Guidance and
  Recommendations.
• National Academy of Sciences, 1975)

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A good screening test is

• accurate
• reproducible
• inexpensive
• non-invasive
• uses an indicator, which is sensitive and
  specific
• a positive test has a high positive predictive
  value.

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MS.MS and the advantages of identifying a whole
cohort of affected children

• Clinical spectrum-classical, variants
• Epidemiology- birth prevalence, gene frequency
• Genetics- inheritance pattern, mechanisms,
  mutational analysis
• Natural history

• Pathophysiology
• Development and evaluation of treatment
• Genetic counseling and PND
• Refinement of diagnosis and screening

One test identifies multiple disorders !
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Adding MS.MS to the Maryland Program

• Strong advocacy by parent groups
• Parents involved legislators
• Metabolic geneticists excited about opportunities
  for treatment and research
• Discussion lab focused
• Advisory Council accedes to requests for speed of
  implementation
• Little attention paid to adequacy of resources
  for
• public and professional education, follow up
• protocols and manpower, database, funding for
• increased workload at metabolic centers

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Informed Consent for Newborn Screening in
Maryland

• Simple good will informed consent
• Most effective when explained by health
  professional
• Analogous to other medical testing in babies and
  children
• Informational booklet/ consent form is a legal
  document and must be approved by the AG
• Very long detailed informational booklet
• Booklets provided by the State to childbirth
  education groups,
• hospitals (floors and pre-admission packets),
• birthing centers, OB, pediatric and family
• practice offices

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Newborn Screening is a population based program

• Populations are very diverse demographically,
  culturally, educationally
• Not all parents want their baby screened (5 to 10
  families / 70,000 / year)
• Some parents, approximately one third, dont want
  to know about disorders unless there is effective
  treatment

Rebecca Kerns, MS, Masters thesis
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Informed Consent for MS.MS

• How can you explain a large number (gt30) of
  complex metabolic disorders without common names
  and with varying degrees of treatability to the
  general population?
• You cant!
• Professional education is also a major
• issue

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Informational Materials for Obtaining Informed
Consent in Maryland

• Focus groups in 2004, in collaboration with Dr
  Terry Davis at LSU, sponsored by MCHB Genetics
  Branch
• Most parents dont feel the need for very
  detailed information
• Most parents dont read the long brochure
• However, if the baby has a positive test result,
  parents find almost all of their questions are
  answered in the long booklet
• How do we get the information to
  parents,especially those with positive results,
  in the right time frame?
• Both booklets at once in the hospital?
• Many parents had no idea the State was involved
• in newborn screening

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Challenges of Working with a Commercial NBS Lab

• In Maryland, the commercial lab competes with
  the State public health lab on a hospital by
  hospital basis
• Many problems stem from having more than one lab
• Families who cant pay
• Volume of samples needed for QA/QC
• Financial viability of the State lab
• Comparability of test results
• Initial and routine second samples going to
  different labs
• Use of lab slip to collect other data- infant
  hearing screening
• or hepatitis B immunizations
• Database integration without any new resources
• HIPAA concerns of commercial lab re reporting to
  the
• State follow up unit
• Differing interpretations of what should be
  reported

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The Role of the State in Newborn Screening

• Assure that all infants are offered screening,
  without regard to ability to pay
• Assure that all infants with results that are not
  normal are followed up
• Assure that all affected infants receive
  appropriate treatment in the necessary time
  frame, without regard to ability to pay
• Assure that all affected infants receive
• appropriate long term care
• Evaluate program performance